Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract

Abstract

Hereditary eye disease: Looking for blindness in the family tree In-depth genomic analysis of the family of a young man with severe visual impairment reveals a new gene involved in eye development. Ocular coloboma encompasses various hereditary disorders in which the eyes form improperly. Many of the underlying genetic factors remain unidentified. Researchers led by Zi-Bing Jin at Wenzhou Medical University in China sequenced the genes of 28-year-old man with a recessive form of ocular coloboma. By comparing these genetic data against equivalent genome sequences from his healthy parents, Jin’s team identified a gene called IPO13 as the culprit. IPO13 has not been linked to human disease before, but the researchers demonstrated that switching off IPO13 expression in zebrafish embryos gave rise to underdeveloped eyes with defects in the iris and cornea. These findings give clinicians another potential indicator for early diagnosis of ocular coloboma.